Matthew-Wood syndrome: A case with dextrocardia and streak gonads

P. Ozyavuz Cubuk, L. Ho, B. Reversade, E. F. Perçin

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Matthew-Wood syndrome (MWS), also termed Microphthalmia, syndrome 9 (MCOPS9, MIM 601186), Spear syndrome, or pulmonary hypoplasia, diaphragmatic hernia, anophthalmia and cardiac defects syndrome (PDAC syndrome), is an autosomal recessive disorder characterised by ocular, respiratory and cardiac abnormalities. Mutations in retinoic acid 6 gene (STRA6) have been reported in clinically diagnosed patients with MWS. Here we presented a case with MWS, who has characteristic findings of the syndrome as well as dextrocardia as an undescribed feature, and bilateral streak gonads which was described only in one patient previously. Molecular analysis showed a homozygous exonic missense mutation in the STRA6 gene.
Original languageEnglish (US)
Pages (from-to)405-410
Number of pages6
JournalGenetic Counseling
Issue number3
StatePublished - Jan 1 2016
Externally publishedYes

Bibliographical note

Generated from Scopus record by KAUST IRTS on 2023-02-15

ASJC Scopus subject areas

  • Genetics(clinical)


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